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UniProtKB - Q3SXY8 (AR13B_HUMAN)

Entry version 136 (07 Apr 2021)
Sequence version 1 (11 Oct 2005)
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Protein

ADP-ribosylation factor-like protein 13B

Gene

ARL13B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidence is required to confirm these data.1 Publication

Miscellaneous

Used as a ciliary marker because of its specific localization to microtubule doublets of the ciliary axoneme.

Caution

Was initially thought to form a homodimer (PubMed:18554500). However, 3D structure of C.reinhardtii ortholog showed that it is probably not the case.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi28 – 35GTPBy similarity8
Nucleotide bindingi71 – 75GTPBy similarity5
Nucleotide bindingi130 – 133GTPBy similarity4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q3SXY8

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5624958, ARL13B-mediated ciliary trafficking of INPP5E
R-HSA-9613829, Chaperone Mediated Autophagy
R-HSA-9615710, Late endosomal microautophagy
R-HSA-9646399, Aggrephagy

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ADP-ribosylation factor-like protein 13B
Alternative name(s):
ADP-ribosylation factor-like protein 2-like 1
Short name:
ARL2-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ARL13B
Synonyms:ARL2L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25419, ARL13B

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608922, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q3SXY8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000169379.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Joubert syndrome 8 (JBTS8)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05437179R → Q in JBTS8; reduces binding to GTP. 1 PublicationCorresponds to variant dbSNP:rs121912606EnsemblClinVar.1
Natural variantiVAR_07749686Y → C in JBTS8; the patient also manifests obesity as a feature; decreased localization to cilium. 1 PublicationCorresponds to variant dbSNP:rs863225430EnsemblClinVar.1
Natural variantiVAR_054372200R → C in JBTS8. 1 PublicationCorresponds to variant dbSNP:rs121912608EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi35T → N: Does not affect localization to cilia. 1 Publication1
Mutagenesisi130N → I: Does not affect localization to cilia. 1 Publication1
Mutagenesisi231K → R: No effect. Abolishes sumoylation; when associated with R-270; R-275; R-276; R-279 and R-329. 1 Publication1
Mutagenesisi270K → R: No effect. Abolishes sumoylation; when associated with R-231; R-275; R-276; R-279 and R-329. 1 Publication1
Mutagenesisi275K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-276; R-279 and R-329. 1 Publication1
Mutagenesisi276K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-279 and R-329. 1 Publication1
Mutagenesisi279K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-276 and R-329. 1 Publication1
Mutagenesisi329K → R: Abolishes sumoylation. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-276 and R-279. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease variant, Joubert syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		200894

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ARL13B

MalaCards human disease database

More...MalaCardsi		ARL13B
MIMi612291, phenotype

Open Targets

More...OpenTargetsi		ENSG00000169379

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		475, Joubert syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134975272

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q3SXY8, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ARL13B

Domain mapping of disease mutations (DMDM)

More...DMDMi		115503786

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002511371 – 428ADP-ribosylation factor-like protein 13BAdd BLAST428

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi8S-palmitoyl cysteineBy similarity1
Lipidationi9S-palmitoyl cysteineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki329Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylation is required for PKD2 entry into cilium.1 Publication

Keywords - PTMi

Isopeptide bond, Lipoprotein, Palmitate, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q3SXY8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q3SXY8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q3SXY8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q3SXY8

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q3SXY8

PeptideAtlas

More...PeptideAtlasi		Q3SXY8

PRoteomics IDEntifications database

More...PRIDEi		Q3SXY8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		32429
61823 [Q3SXY8-1]
61824 [Q3SXY8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q3SXY8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q3SXY8

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q3SXY8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the developing brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000169379, Expressed in secondary oocyte and 200 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q3SXY8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q3SXY8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000169379, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (By similarity).

Interacts with PIFO.

Interacts with IFT complex B components IFT46 and IFT74.

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q3SXY8
With#Exp.IntAct
ACSF2 [Q96CM8]3EBI-11343438,EBI-2876502
AIG1 - isoform 1 [Q9NVV5-2]3EBI-11343438,EBI-11957045
ALG3 [Q92685]3EBI-11343438,EBI-2848814
ANKRD46 - isoform 1 [Q86W74-2]3EBI-11343438,EBI-12109402
AOC3 [Q16853]3EBI-11343438,EBI-3921628
AQP10 [Q96PS8]3EBI-11343438,EBI-12820279
B4GALNT2 [Q8NHY0]3EBI-11343438,EBI-1042940
BMP10 [O95393]3EBI-11343438,EBI-3922513
BNIP3 [Q12983]3EBI-11343438,EBI-749464
BRICD5 - isoform 2 [Q6PL45-2]3EBI-11343438,EBI-12244618
C2CD2L [O14523]3EBI-11343438,EBI-12822627
C4orf3 - isoform 2 [Q8WVX3-2]3EBI-11343438,EBI-12003442
CCDC167 [Q9P0B6]3EBI-11343438,EBI-9083477
CCL4 [P13236]3EBI-11343438,EBI-2873970
CCL4L2 [Q8NHW4]3EBI-11343438,EBI-10271156
CD151 [P48509]3EBI-11343438,EBI-10210332
CD302 [Q8IX05]3EBI-11343438,EBI-14259393
CD53 [P19397]3EBI-11343438,EBI-6657396
CDIPT [O14735]3EBI-11343438,EBI-358858
CFHR5 [Q9BXR6]3EBI-11343438,EBI-11579371
CLDN4 [O14493]3EBI-11343438,EBI-9316372
CLDN8 [P56748]3EBI-11343438,EBI-10215641
CLEC4G [Q6UXB4]3EBI-11343438,EBI-2114729
CLEC7A - isoform 6 [Q9BXN2-6]3EBI-11343438,EBI-11989440
CLN6 [Q9NWW5]3EBI-11343438,EBI-6165897
CMTM3 [Q96MX0]3EBI-11343438,EBI-7247651
CMTM7 [Q96FZ5]3EBI-11343438,EBI-2807956
COL8A2 [Q4VAQ0]3EBI-11343438,EBI-10241815
CSGALNACT2 [Q8N6G5]3EBI-11343438,EBI-10267100
CXCL16 [A0A6I8PIU0]3EBI-11343438,EBI-10176529
CYB561D2 [O14569]3EBI-11343438,EBI-717654
EBP [Q15125]3EBI-11343438,EBI-3915253
EMP1 [P54849]3EBI-11343438,EBI-4319440
ENTPD3 - isoform 2 [O75355-2]3EBI-11343438,EBI-12279764
FAXDC2 [Q96IV6]3EBI-11343438,EBI-12142299
FDFT1 [P37268]3EBI-11343438,EBI-714550
FKBP8 [Q14318]3EBI-11343438,EBI-724839
FUNDC2 [Q9BWH2]3EBI-11343438,EBI-714482
FXYD6 [Q9H0Q3]3EBI-11343438,EBI-713304
GAD2 [Q05329]3EBI-11343438,EBI-9304251
GIMAP1 [Q8WWP7]3EBI-11343438,EBI-11991950
GIMAP5 [Q96F15]3EBI-11343438,EBI-6166686
GJB2 [P29033]3EBI-11343438,EBI-3905204
GOSR2 [O14653]3EBI-11343438,EBI-4401517
GPR37L1 [O60883]3EBI-11343438,EBI-2927498
HMOX1 [P09601]3EBI-11343438,EBI-2806151
HMOX2 [P30519]3EBI-11343438,EBI-712096
HOMER3 [Q9NSC5]3EBI-11343438,EBI-748420
ICMT [O60725]3EBI-11343438,EBI-11721771
ITGAM [P11215]3EBI-11343438,EBI-2568251
JAGN1 [Q8N5M9]3EBI-11343438,EBI-10266796
KCNJ2 [P63252]3EBI-11343438,EBI-703457
KLRG1 [Q96E93]3EBI-11343438,EBI-750770
LEPROTL1 [O95214]3EBI-11343438,EBI-750776
LPAR3 [Q9UBY5]3EBI-11343438,EBI-12033434
MAL2 [Q969L2]3EBI-11343438,EBI-944295
MALL [Q13021]3EBI-11343438,EBI-750078
MMD [Q15546]3EBI-11343438,EBI-17873222
MOSPD3 [O75425]3EBI-11343438,EBI-12179105
MUCL1 [Q96DR8]3EBI-11343438,EBI-9056153
MYADML2 [A6NDP7]3EBI-11343438,EBI-17641390
NAT8 [Q9UHE5]3EBI-11343438,EBI-2863634
NINJ2 [Q9NZG7]3EBI-11343438,EBI-10317425
NKG7 [Q16617]3EBI-11343438,EBI-3919611
NRM [Q8IXM6]3EBI-11343438,EBI-10262547
ORMDL1 [Q9P0S3]3EBI-11343438,EBI-1054848
ORMDL3 [Q8N138]3EBI-11343438,EBI-721750
PAEP [P09466]3EBI-11343438,EBI-465167
PDZK1IP1 [Q13113]3EBI-11343438,EBI-716063
PGAP2 - isoform 5 [Q9UHJ9-5]3EBI-11343438,EBI-12092917
PLN [P26678]3EBI-11343438,EBI-692836
PLP1 - isoform DM-20 [P60201-2]3EBI-11343438,EBI-12188331
PLPP4 [Q5VZY2]3EBI-11343438,EBI-10485931
PLPPR2 [Q96GM1]3EBI-11343438,EBI-12955265
PMP22 [Q01453]3EBI-11343438,EBI-2845982
PPGB [Q59EV6]3EBI-11343438,EBI-14210385
PRB1 [A5D903]3EBI-11343438,EBI-10173935
PTPN9 [P43378]3EBI-11343438,EBI-742898
RTP2 [Q5QGT7]3EBI-11343438,EBI-10244780
S100A2 [P29034]3EBI-11343438,EBI-752230
SACM1L [Q9NTJ5]3EBI-11343438,EBI-3917235
SEMA4G - isoform 2 [Q9NTN9-2]3EBI-11343438,EBI-12913124
SLC13A3 [Q8WWT9]3EBI-11343438,EBI-12938720
SLC2A5 [P22732]3EBI-11343438,EBI-2825135
SLC35A1 [P78382]3EBI-11343438,EBI-12870360
SLC35B1 [P78383]3EBI-11343438,EBI-12147661
SLC38A7 [Q9NVC3]3EBI-11343438,EBI-10314552
SLC39A2 [Q9NP94]3EBI-11343438,EBI-12898013
SMAGP [Q0VAQ4]3EBI-11343438,EBI-10226799
SPN [P16150]3EBI-11343438,EBI-10049055
STRIT1 [P0DN84]3EBI-11343438,EBI-12200293
STX1A [Q16623]3EBI-11343438,EBI-712466
STX7 [O15400]3EBI-11343438,EBI-3221827
TECR [Q9NZ01]3EBI-11343438,EBI-2877718
TEX264 [Q9Y6I9]3EBI-11343438,EBI-10329860
TFRC [P02786]3EBI-11343438,EBI-355727
THSD7A [Q9UPZ6]3EBI-11343438,EBI-310962
THSD7B [C9JKN6]3EBI-11343438,EBI-17192156
TM6SF2 [Q9BZW4]3EBI-11343438,EBI-13082040
TMEM11 [P17152]3EBI-11343438,EBI-723946
TMEM121 [Q9BTD3]3EBI-11343438,EBI-12155101
TMEM128 - isoform 2 [Q5BJH2-2]3EBI-11343438,EBI-10694905
TMEM14C [Q9P0S9]3EBI-11343438,EBI-2339195
TMEM187 [Q14656]3EBI-11343438,EBI-13046724
TMEM190 [Q8WZ59]3EBI-11343438,EBI-10278423
TMEM218 [A2RU14]3EBI-11343438,EBI-10173151
TMEM229B [Q8NBD8]3EBI-11343438,EBI-12195227
TMEM254 [Q8TBM7]3EBI-11343438,EBI-11956809
TMEM43 [Q9BTV4]3EBI-11343438,EBI-721293
TMEM54 [Q969K7]3EBI-11343438,EBI-3922833
TMEM65 [Q6PI78]3EBI-11343438,EBI-6656213
TMEM79 [Q9BSE2]3EBI-11343438,EBI-8649725
TMEM86B [Q8N661]3EBI-11343438,EBI-2548832
TMEM97 [Q5BJF2]3EBI-11343438,EBI-12111910
TMUB2 [Q71RG4]3EBI-11343438,EBI-2820477
TNFRSF10C [O14798]3EBI-11343438,EBI-717441
TNMD - isoform 2 [Q9H2S6-2]3EBI-11343438,EBI-12003398
TSPO2 [Q5TGU0]3EBI-11343438,EBI-12195249
TUSC5 [A5PKU2]3EBI-11343438,EBI-11988865
VAMP1 - isoform 2 [P23763-3]3EBI-11343438,EBI-12097582
VAMP2 [P63027]3EBI-11343438,EBI-520113
VAMP3 [Q15836]3EBI-11343438,EBI-722343
VAMP4 [O75379]3EBI-11343438,EBI-744953
VSTM1 - isoform 3 [Q6UX27-3]3EBI-11343438,EBI-12190699
WFDC2 [Q14508]3EBI-11343438,EBI-723529
YIPF6 [Q96EC8]3EBI-11343438,EBI-751210
ZDHHC15 [Q96MV8]3EBI-11343438,EBI-12837904

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		128353, 166 interactors

Protein interaction database and analysis system

More...IntActi		Q3SXY8, 143 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000377769

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q3SXY8, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q3SXY8

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili192 – 245Sequence analysisAdd BLAST54

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi369 – 419Pro-richAdd BLAST51

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the small GTPase superfamily. Arf family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0074, Eukaryota
KOG0076, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156365

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_040729_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q3SXY8

Identification of Orthologs from Complete Genome Data

More...OMAi		CPLKHKM

Database of Orthologous Groups

More...OrthoDBi		732329at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q3SXY8

TreeFam database of animal gene trees

More...TreeFami		TF105476

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027417, P-loop_NTPase
IPR005225, Small_GTP-bd_dom
IPR006689, Small_GTPase_ARF/SAR

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00025, Arf, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00328, SAR1GTPBP

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540, SSF52540, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00231, small_GTP, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51417, ARF, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q3SXY8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFSLMASCCG WFKRWREPVR KVTLLMVGLD NAGKTATAKG IQGEYPEDVA 
        60         70         80         90        100
PTVGFSKINL RQGKFEVTIF DLGGGIRIRG IWKNYYAESY GVIFVVDSSD 
       110        120        130        140        150
EERMEETKEA MSEMLRHPRI SGKPILVLAN KQDKEGALGE ADVIECLSLE 
       160        170        180        190        200
KLVNEHKCLC QIEPCSAISG YGKKIDKSIK KGLYWLLHVI ARDFDALNER 
       210        220        230        240        250
IQKETTEQRA LEEQEKQERA ERVRKLREER KQNEQEQAEL DGTSGLAELD 
       260        270        280        290        300
PEPTNPFQPI ASVIIENEGK LEREKKNQKM EKDSDGCHLK HKMEHEQIET 
       310        320        330        340        350
QGQVNHNGQK NNEFGLVENY KEALTQQLKN EDETDRPSLE SANGKKKTKK 
       360        370        380        390        400
LRMKRNHRVE PLNIDDCAPE SPTPPPPPPP VGWGTPKVTR LPKLEPLGET 
       410        420 
HHNDFYRKPL PPLAVPQRPN SDAHDVIS
Length:428
Mass (Da):48,643
Last modified:October 11, 2005 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i002B38A38D1F7BDD
GO
Isoform 2 (identifier: Q3SXY8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     21-127: Missing.

Show »
Length:321
Mass (Da):36,795
Checksum:iD4D82D271E9E7F1E
GO
Isoform 3 (identifier: Q3SXY8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-103: Missing.

Show »
Length:325
Mass (Da):37,087
Checksum:i21F4DA7BFC23125C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W837F8W837_HUMAN
ADP-ribosylation factor-like protei...
ARL13B
89Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAY0F8WAY0_HUMAN
ADP-ribosylation factor-like protei...
ARL13B
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti275K → KK in CAD28544 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05437179R → Q in JBTS8; reduces binding to GTP. 1 PublicationCorresponds to variant dbSNP:rs121912606EnsemblClinVar.1
Natural variantiVAR_07749686Y → C in JBTS8; the patient also manifests obesity as a feature; decreased localization to cilium. 1 PublicationCorresponds to variant dbSNP:rs863225430EnsemblClinVar.1
Natural variantiVAR_054372200R → C in JBTS8. 1 PublicationCorresponds to variant dbSNP:rs121912608EnsemblClinVar.1
Natural variantiVAR_048319348T → S. Corresponds to variant dbSNP:rs33944211EnsemblClinVar.1
Natural variantiVAR_069190390R → L in a nephronophthisis (NPHP) patient. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0454211 – 103Missing in isoform 3. 1 PublicationAdd BLAST103
Alternative sequenceiVSP_02073321 – 127Missing in isoform 2. 1 PublicationAdd BLAST107

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL713789 mRNA Translation: CAD28544.2
AC117474 Genomic DNA No translation available.
AC130896 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79897.1
CH471052 Genomic DNA Translation: EAW79901.1
CH471052 Genomic DNA Translation: EAW79898.1
BC094725 mRNA Translation: AAH94725.1
BC104035 mRNA Translation: AAI04036.1
BC104036 mRNA Translation: AAI04037.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2924.1 [Q3SXY8-2]
CCDS2925.1 [Q3SXY8-1]
CCDS54615.1 [Q3SXY8-3]

NCBI Reference Sequences

More...RefSeqi		NP_001167621.1, NM_001174150.1 [Q3SXY8-1]
NP_001167622.1, NM_001174151.1 [Q3SXY8-3]
NP_659433.2, NM_144996.3 [Q3SXY8-2]
NP_878899.1, NM_182896.2 [Q3SXY8-1]
XP_016861342.1, XM_017005853.1 [Q3SXY8-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000303097; ENSP00000306225; ENSG00000169379 [Q3SXY8-2]
ENST00000394222; ENSP00000377769; ENSG00000169379 [Q3SXY8-1]
ENST00000471138; ENSP00000420780; ENSG00000169379 [Q3SXY8-1]
ENST00000535334; ENSP00000445145; ENSG00000169379 [Q3SXY8-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		200894

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:200894

UCSC genome browser

More...UCSCi		uc003drc.4, human [Q3SXY8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL713789 mRNA Translation: CAD28544.2
AC117474 Genomic DNA No translation available.
AC130896 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79897.1
CH471052 Genomic DNA Translation: EAW79901.1
CH471052 Genomic DNA Translation: EAW79898.1
BC094725 mRNA Translation: AAH94725.1
BC104035 mRNA Translation: AAI04036.1
BC104036 mRNA Translation: AAI04037.1
CCDSiCCDS2924.1 [Q3SXY8-2]
CCDS2925.1 [Q3SXY8-1]
CCDS54615.1 [Q3SXY8-3]
RefSeqiNP_001167621.1, NM_001174150.1 [Q3SXY8-1]
NP_001167622.1, NM_001174151.1 [Q3SXY8-3]
NP_659433.2, NM_144996.3 [Q3SXY8-2]
NP_878899.1, NM_182896.2 [Q3SXY8-1]
XP_016861342.1, XM_017005853.1 [Q3SXY8-3]

3D structure databases

SMRiQ3SXY8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi128353, 166 interactors
IntActiQ3SXY8, 143 interactors
STRINGi9606.ENSP00000377769

PTM databases

iPTMnetiQ3SXY8
PhosphoSitePlusiQ3SXY8
SwissPalmiQ3SXY8

Genetic variation databases

BioMutaiARL13B
DMDMi115503786

Proteomic databases

EPDiQ3SXY8
jPOSTiQ3SXY8
MassIVEiQ3SXY8
MaxQBiQ3SXY8
PaxDbiQ3SXY8
PeptideAtlasiQ3SXY8
PRIDEiQ3SXY8
ProteomicsDBi32429
61823 [Q3SXY8-1]
61824 [Q3SXY8-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32073, 117 antibodies

The DNASU plasmid repository

More...DNASUi		200894

Genome annotation databases

EnsembliENST00000303097; ENSP00000306225; ENSG00000169379 [Q3SXY8-2]
ENST00000394222; ENSP00000377769; ENSG00000169379 [Q3SXY8-1]
ENST00000471138; ENSP00000420780; ENSG00000169379 [Q3SXY8-1]
ENST00000535334; ENSP00000445145; ENSG00000169379 [Q3SXY8-3]
GeneIDi200894
KEGGihsa:200894
UCSCiuc003drc.4, human [Q3SXY8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		200894
DisGeNETi200894

GeneCards: human genes, protein and diseases

More...GeneCardsi		ARL13B
GeneReviewsiARL13B
HGNCiHGNC:25419, ARL13B
HPAiENSG00000169379, Low tissue specificity
MalaCardsiARL13B
MIMi608922, gene
612291, phenotype
neXtProtiNX_Q3SXY8
OpenTargetsiENSG00000169379
Orphaneti475, Joubert syndrome
PharmGKBiPA134975272
VEuPathDBiHostDB:ENSG00000169379.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0074, Eukaryota
KOG0076, Eukaryota
GeneTreeiENSGT00940000156365
HOGENOMiCLU_040729_3_0_1
InParanoidiQ3SXY8
OMAiCPLKHKM
OrthoDBi732329at2759
PhylomeDBiQ3SXY8
TreeFamiTF105476

Enzyme and pathway databases

PathwayCommonsiQ3SXY8
ReactomeiR-HSA-5624958, ARL13B-mediated ciliary trafficking of INPP5E
R-HSA-9613829, Chaperone Mediated Autophagy
R-HSA-9615710, Late endosomal microautophagy
R-HSA-9646399, Aggrephagy

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		200894, 13 hits in 995 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ARL13B, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ARL13B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		200894
PharosiQ3SXY8, Tbio

Protein Ontology

More...PROi		PR:Q3SXY8
RNActiQ3SXY8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000169379, Expressed in secondary oocyte and 200 other tissues
ExpressionAtlasiQ3SXY8, baseline and differential
GenevisibleiQ3SXY8, HS

Family and domain databases

InterProiView protein in InterPro
IPR027417, P-loop_NTPase
IPR005225, Small_GTP-bd_dom
IPR006689, Small_GTPase_ARF/SAR
PfamiView protein in Pfam
PF00025, Arf, 1 hit
PRINTSiPR00328, SAR1GTPBP
SUPFAMiSSF52540, SSF52540, 1 hit
TIGRFAMsiTIGR00231, small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51417, ARF, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAR13B_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q3SXY8
Secondary accession number(s): D3DN29
, G3V1S8, Q504W8, Q8TCL5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 11, 2005
Last modified: April 7, 2021
This is version 136 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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